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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182728.1:p.[Arg703del;Val705_Thr708delinsThrCys;Arg710_Leu711insHis;Gly713Ala;Thr715_Pro716delinsTrp;Leu718_Met726delinsHisProTrpAlaHisHisGlyGlyAsp;His728_Leu731delinsAspAsnValSerProSerSer]
CA2697556242
NM_001195799.2:c.2107dup